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Journal of Mazandaran University of Medical Sciences. 2008; 18 (67): 111-117
en Persa | IMEMR | ID: emr-119064

RESUMEN

Ataxia-telangiectasia syndrome is an autosomal recessive associated with combined immunodeficiency, progressive cerebellum ataxia, telangiectasia, ocolomotor apraxia, dysartheria and respiratory infections. In this study we reported three cases from a family with classical symptoms. Second sibling was died at 13 old years because severe respiratory infection but third and forth siblings have life. The first sibling is female and normal


Asunto(s)
Humanos , Masculino , Ataxia Cerebelosa , Telangiectasia , Disartria , Memoria Inmunológica
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